RAG deficiency is emerging as one of the leading causes of SCID and leaky SCID with an estimated incidence of 1:336,000. Hypomorphic mutations in the genes can also lead to highly variable delayed-onset combined immunodeficiency diseases. We estimate the population genetic frequency of these hypomorphic diseases as up to 1:181,000, suggesting that mutations are likely to contribute to undiagnosed cases of combined immunodeficiencies.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303162 | PMC |
| http://dx.doi.org/10.1016/j.jaci.2016.07.027 | DOI Listing |
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